ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828092741
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
480854
ClinVar RCV Id:
RCV000563535
RCV000924510
RCV001577990
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Glu929Lys
CA041991
NM_001363528.2:c.2785G>A